| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
22 YR |
| Sex |
Female |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
ISRAEL |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
DONOR IS HETEROZYGOUS FOR A PATHOGENIC MUTATION IN THE ACTA1 GENE, CHR1 (GRCH37): G.229568309T>C, NM_001100.3: C.448A>G (P.THR150ALA) WHICH IS CONSISTENT WITH A GENETIC DIAGNOSIS OF NEMALINE MYOPATHY |
| Zygosity: |
Heterozygous |
| Other variants: |
DONOR IS ALSO HETEROZYGOUS FOR AN UNCLASSIFIED VARIANT OF UNCERTAIN SIGNIFICANCE, DNAJB6 (NM_ 058246.3) CHR7(GRCH37): G157208707T>G, NM_058246.3, C.899-3T>G WHICH IS POSSIBLY CONSISTENT WITH A GENETIC DIAGNOSIS OF LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1E |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
| |
Hypotonia
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| Additional Information: |
NEUROMUSCULAR ABNORMALITY; PROBABLE NEUROPATHY AND MYOPATHY DISORDERS; MANIFESTATION AT BIRTH |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Musculoskeletal and Developmental Testing: |
DIAGNOSIS CONFIRMED BY MUSCLE BIOPSY, ELECTROMYOGRAPHY (EMG), AND GENETIC TESTING |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
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PARENTS ARE NON-CONSANGUINEOUS AND HAVE NO OTHER AFFECTED CHILD |
| Remarks |
See Phenotypic Data tab. Same donor as GM27890 (lymph); see Family Number NIGMS00048. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |